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Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

  • Published:1985-06 Issue:6 Volume:106 Page:954-956
  • ISSN:0022-3476
  • Container-title:The Journal of Pediatrics
  • language:en
  • Short-container-title:The Journal of Pediatrics

Author:

Dhondt Jean-Louis,Farriaux Jean-Pierre,Boudha Abdennacer,Largillière Claude,Ringel Jacques,Roger Marie-Madeleine,Leeming Robert J.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Tetrahydrobiopterin deficiencies: Preliminary analysis from an international survey;Dhondt;J Pediatr,1984

2. Hyperphenylalaninemia with neopterin deficiency: A new enzyme defect presumably of GTP-cyclohydrolase;Niederwieser;Eur J Pediatr,1982

3. Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine;Dhondt;Clin Chim Acta,1981

4. Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterein deficiency screening in hyperphenylalaninaemic infants;Leeming;Arch Dis Child,1984

5. Hepatic phenylalanine hydroxylase activity in hyperphenylalaninemia;Dhondt;J Inher Metab Dis,1981

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2. Amino Acid Metabolism;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

3. The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene;Metabolic Brain Disease;2019-07-22

4. Amino Acid Metabolism;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

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